ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.469_471del (p.Val157del)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000546.6(TP53):c.469_471del (p.Val157del)
Variation ID: 3181373 Accession: VCV003181373.1
- Type and length
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Deletion, 3 bp
- Location
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Cytogenetic: 17p13.1 17: 7675141-7675143 (GRCh38) [ NCBI UCSC ] 17: 7578459-7578461 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline May 1, 2024 May 1, 2024 Mar 24, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000546.6:c.469_471del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Val157del inframe deletion NM_001126112.3:c.469_471del NP_001119584.1:p.Val157del inframe deletion NM_001126113.3:c.469_471del NP_001119585.1:p.Val157del inframe deletion NM_001126114.3:c.469_471del NP_001119586.1:p.Val157del inframe deletion NM_001126115.2:c.73_75del NP_001119587.1:p.Val25del inframe deletion NM_001126116.2:c.73_75del NP_001119588.1:p.Val25del inframe deletion NM_001126117.2:c.73_75del NP_001119589.1:p.Val25del inframe deletion NM_001126118.2:c.352_354del NP_001119590.1:p.Val118del inframe deletion NM_001276695.3:c.352_354del NP_001263624.1:p.Val118del inframe deletion NM_001276696.3:c.352_354del NP_001263625.1:p.Val118del inframe deletion NM_001276697.3:c.-9_-7del 5 prime UTR NM_001276698.3:c.-9_-7del 5 prime UTR NM_001276699.3:c.-9_-7del 5 prime UTR NM_001276760.3:c.352_354del NP_001263689.1:p.Val118del inframe deletion NM_001276761.3:c.352_354del NP_001263690.1:p.Val118del inframe deletion NM_001407262.1:c.469_471del NP_001394191.1:p.Val157del inframe deletion NM_001407263.1:c.352_354del NP_001394192.1:p.Val118del inframe deletion NM_001407264.1:c.469_471del NP_001394193.1:p.Val157del inframe deletion NM_001407265.1:c.352_354del NP_001394194.1:p.Val118del inframe deletion NM_001407266.1:c.469_471del NP_001394195.1:p.Val157del inframe deletion NM_001407267.1:c.352_354del NP_001394196.1:p.Val118del inframe deletion NM_001407268.1:c.469_471del NP_001394197.1:p.Val157del inframe deletion NM_001407269.1:c.352_354del NP_001394198.1:p.Val118del inframe deletion NM_001407270.1:c.469_471del NP_001394199.1:p.Val157del inframe deletion NM_001407271.1:c.352_354del NP_001394200.1:p.Val118del inframe deletion NR_176326.1:n.611_613del non-coding transcript variant NC_000017.11:g.7675142_7675144del NC_000017.10:g.7578460_7578462del NG_017013.2:g.17408_17410del LRG_321:g.17408_17410del LRG_321t1:c.468_470del LRG_321p1:p.Val157del LRG_321t2:c.468_470del LRG_321:p.Val157del LRG_321t3:c.468_470del LRG_321p3:p.Val157del LRG_321t4:c.468_470del LRG_321p4:p.Val157del LRG_321t5:c.72_74del LRG_321p5:p.Val25del LRG_321t6:c.72_74del LRG_321p6:p.Val25del LRG_321t7:c.72_74del LRG_321p7:p.Val25del LRG_321t8:c.351_353del LRG_321p8:p.Val118del - Protein change
- V157del, V118del, V25del
- Other names
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- Canonical SPDI
- NC_000017.11:7675140:GACG:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3317 | 3412 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
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The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
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Mar 24, 2022 | RCV004468240.1 |
Submissions - Germline
Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Mar 24, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004971369.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.469_471delGTC (p.V157del) alteration is located in exon 5 (coding exon 4) of the TP53 gene. This alteration consists of an in-frame deletion of 3 … (more)
The c.469_471delGTC (p.V157del) alteration is located in exon 5 (coding exon 4) of the TP53 gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.469 and c.471, resulting in the deletion of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated May 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.